PSP
MCID: PNM010
MIFTS: 33

Pneumothorax, Primary Spontaneous (PSP) malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pneumothorax, Primary Spontaneous

Aliases & Descriptions for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 54 13 69
Spontaneous Pneumothorax 50 24 25 29 52 69
Primary Spontaneous Pneumothorax 50 25 66 29
Familial Spontaneous Pneumothorax 50 56
Pneumothorax 25 69
Psp 25 66

Characteristics:

Orphanet epidemiological data:

56
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

HPO:

32
pneumothorax, primary spontaneous:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 173600
Orphanet 56 ORPHA2903
ICD10 via Orphanet 34 J93.1
MedGen 40 C1868193

Summaries for Pneumothorax, Primary Spontaneous

NIH Rare Diseases : 50 primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. it is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. this air creates pressure on the lung and can lead to its collapse. symptoms may include chest pain on the side of the collapsed lung and shortness of breath. the blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. a change in air pressure or a very sudden deep breath may cause a rupture to occur. in most cases, there are no prior signs of illness. once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. in rare cases, the condition can be caused by mutations in the flcn gene. in these cases, the condition follows an autosomal dominant pattern of inheritance. in addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including marfan syndrome, homocystinuria, and birt-hogg-dube syndrome. last updated: 6/17/2015

MalaCards based summary : Pneumothorax, Primary Spontaneous, also known as spontaneous pneumothorax, is related to supranuclear palsy, progressive and birt-hogg-dube syndrome, and has symptoms including abnormality of the pleura, pneumothorax and spontaneous pneumothorax. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin). The drugs Propofol and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and colon.

Genetics Home Reference : 25 Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.

OMIM : 54 Birt-Hogg-Dube syndrome (BHD; 135150) is an allelic disorder characterized by spontaneous pneumothorax, as well as... (173600) more...

UniProtKB/Swiss-Prot : 66 Primary spontaneous pneumothorax: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested.

Related Diseases for Pneumothorax, Primary Spontaneous

Graphical network of the top 20 diseases related to Pneumothorax, Primary Spontaneous:



Diseases related to Pneumothorax, Primary Spontaneous

Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

Symptoms by clinical synopsis from OMIM:

173600

Clinical features from OMIM:

173600

Human phenotypes related to Pneumothorax, Primary Spontaneous:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pleura 56 32 Very frequent (99-80%) HP:0002103
2 pneumothorax 56 32 Very frequent (99-80%) HP:0002107
3 spontaneous pneumothorax 32 HP:0002108
4 abnormality of the respiratory system 56 Very frequent (99-80%)

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


dyspnea, hemoptysis

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

Drugs for Pneumothorax, Primary Spontaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
3
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Remifentanil Approved Phase 4 132875-61-7 60815
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8 tannic acid Approved, Nutraceutical Phase 4
9 Analgesics Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Anesthetics Phase 4,Phase 2,Phase 3
12 Anesthetics, General Phase 4
13 Anesthetics, Intravenous Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Pharmaceutical Solutions Phase 4
16 Hypnotics and Sedatives Phase 4
17 Central Nervous System Depressants Phase 4
18 Narcotics Phase 4
19 Analgesics, Opioid Phase 4
20 Antipyretics Phase 4
21
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
22 Anti-Bacterial Agents Phase 3,Phase 2
23 Anti-Infective Agents Phase 3,Phase 2
24 insulin Phase 2
25 Insulin, Globin Zinc Phase 2
26
Furosemide Approved, Vet_approved 54-31-9 3440
27
Menthol Approved 2216-51-5 16666
28
Rocuronium Approved 119302-91-9, 143558-00-3 441290
29
Dexmedetomidine Approved, Vet_approved 76631-46-4, 113775-47-6 68602 5311068 56032
30
Sevoflurane Approved, Vet_approved 28523-86-6 5206
31
Lidocaine Approved, Vet_approved 137-58-6 3676
32
Ketamine Approved, Vet_approved 6740-88-1 3821
33 diuretics
34 Vasodilator Agents
35 Adrenergic Agents
36 Adrenergic Agonists
37 Neuromuscular Agents
38 Sodium Channel Blockers
39 Neuromuscular Blocking Agents
40 Adrenergic alpha-2 Receptor Agonists
41 Neuromuscular Nondepolarizing Agents
42 Adrenergic alpha-Agonists
43 Neurotransmitter Agents
44 Anesthetics, Dissociative
45 Diuretics, Potassium Sparing
46 Anesthetics, Inhalation
47 Anesthetics, Local
48 Anti-Arrhythmia Agents
49 Platelet Aggregation Inhibitors
50 Excitatory Amino Acid Antagonists

Interventional clinical trials:

(show all 33)
id Name Status NCT ID Phase
1 Improving Primary Spontaneous Pneumothorax (PSP) Treatment Techniques in VATS Unknown status NCT01463553 Phase 4
2 Controlled-Release Oxycodone For Postoperative Analgesia After Video-Assisted Thoracic Surgery Terminated NCT00681174 Phase 4
3 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax Unknown status NCT00418392 Phase 3
4 Additional Minocycline Pleurodesis After Thoracoscopic Procedures for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3
5 Pleural Abrasion Plus Minocycline Versus Apical Pleurectomy for Primary Spontaneous Pneumothorax Unknown status NCT00270751 Phase 2, Phase 3
6 Chest Tube Drainage or Thoracoscopic Surgery for Failed Aspiration of Spontaneous Pneumothorax Unknown status NCT00713362 Phase 2, Phase 3
7 Efficacy of the Additional Mechanical Pleurodesis for Surgical Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
8 Absorbable Mesh Pleurodesis in Thoracoscopic Treatment of Spontaneous Pneumothorax Recruiting NCT01848860 Phase 2, Phase 3
9 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence Recruiting NCT02558608 Phase 3
10 Techniques for Lung Deflation With Arndt® Blocker Completed NCT02030795 Phase 2
11 Prevalence of Spontaneous Pneumothorax in BHD Recruiting NCT02916992 Phase 1
12 Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
13 Comparison of Exsufflation Versus Drainage in Primary Spontaneous Pneumothorax Unknown status NCT01008228
14 Intrapleural Minocycline After Aspiration of Spontaneous Pneumothorax Unknown status NCT00839553
15 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664
16 Lung Ultrasound Assisting Weaning in Difficult-to-wean Patients Unknown status NCT01724034
17 A Prospective Randomised Study of Efficacy, Safety and Costs of Talc Pleurodesis Under Medical Thoracoscopy and Pleurodesis Under Video-assisted Thoracoscopy Surgery for Recurrent Primary Spontaneous Pneumothorax Completed NCT00767962
18 Intrapleural Minocycline Following Simple Aspiration for Primary Spontaneous Pneumothorax Completed NCT00520221
19 Comparative Study of Nonintubated Anesthesia Versus Intubated General Anesthesia in Single Port Thoracoscopic Bullectomy Completed NCT02109510
20 Video-assisted Thoracic Surgery (VATS) Versus Axillary Mini-thoracotomy for the Treatment of Recurrent Spontaneous Pneumothorax Completed NCT01192217
21 Post-lobectomy Use of Glucose for Pleurodesis and Air-leak Cessation. A Feasibility Trial. Completed NCT02376218
22 Immune Response in Lung Cancer Completed NCT01955343
23 Disconnection Technique With a Bronchial Blocker for Improving Lung Deflation Completed NCT01846936
24 Perioperative Change of Regional Ventilation During Spontaneous Breathing Completed NCT02419196
25 Comparison Between Infant Flow SiPAP and Noninvasive NAVA in the Neonatal Intensive Care Unit Completed NCT01588080
26 Spontaneous Pneumothorax in Children Recruiting NCT02573285
27 Study Designed to Optimize the Treatment of Primary Pneumothorax Recruiting NCT02866305 Early Phase 1
28 Wedge Resection or Parietal Pleurectomy for the Treatment of Recurrent Pneumothorax (WOPP) Recruiting NCT01855464
29 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Recruiting NCT03052101
30 Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome Recruiting NCT03040115
31 Airway Pressure Release Ventilation (APRV) Protocol Early Used in Acute Respiratory Distress Syndrome Recruiting NCT02639364
32 Primary Versus Delayed Surgical Therapy for Pediatric Spontaneous Pneumothorax Active, not recruiting NCT02449980
33 Chronic Pain After Video-assisted Thoracoscopic Surgery (VATS) Surgery for Pneumothorax Terminated NCT00969423

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Pneumothorax, Primary Spontaneous

Genetic tests related to Pneumothorax, Primary Spontaneous:

id Genetic test Affiliating Genes
1 Pneumothorax, Primary Spontaneous 29
2 Spontaneous Pneumothorax 29 24 FLCN

Anatomical Context for Pneumothorax, Primary Spontaneous

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

39
Lung, Skin, Colon

Publications for Pneumothorax, Primary Spontaneous

Variations for Pneumothorax, Primary Spontaneous

UniProtKB/Swiss-Prot genetic disease variations for Pneumothorax, Primary Spontaneous:

66
id Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
2 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
3 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh37 Chromosome 17, 17118301: 17118304
4 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh37 Chromosome 17, 17127450: 17127450
5 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh37 Chromosome 17, 17120384: 17120403
6 FLCN NM_144997.5(FLCN): c.872-?_c.1740+?del deletion Pathogenic
7 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
8 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh38 Chromosome 17, 17224069: 17224071

Expression for Pneumothorax, Primary Spontaneous

Search GEO for disease gene expression data for Pneumothorax, Primary Spontaneous.

Pathways for Pneumothorax, Primary Spontaneous

GO Terms for Pneumothorax, Primary Spontaneous

Sources for Pneumothorax, Primary Spontaneous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....